ClinVar Miner

List of variants studied for aplasia of lacrimal and salivary glands

Included ClinVar conditions (2):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004465.2(FGF10):c.430-15G>C rs2290070 0.17544
NM_004465.2(FGF10):c.591C>T (p.Thr197=) rs17234639 0.02485
NM_004465.1(FGF10):c.*5A>T rs111763965 0.01295
NM_004465.2(FGF10):c.97G>A (p.Val33Ile) rs145373611 0.00211
NM_004465.2(FGF10):c.620A>C (p.His207Pro) rs147715509 0.00152
NM_004465.2(FGF10):c.610A>G (p.Met204Val) rs150695565 0.00009
NM_004465.2(FGF10):c.144G>A (p.Glu48=) rs886060655 0.00003
NM_004465.2(FGF10):c.423T>C (p.Tyr141=) rs202058604 0.00003
NM_004465.2(FGF10):c.426C>T (p.Gly142=) rs149851674 0.00003
NC_000005.10:g.(44304226_44304232)_(44357318_44357323)del
NM_004465.2(FGF10):c.186C>A (p.Ser62Arg) rs886060654
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.2(FGF10):c.261G>A (p.Lys87=) rs545941601
NM_004465.2(FGF10):c.374C>A (p.Ala125Asp)
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter) rs104893887
NM_004465.2(FGF10):c.413G>A (p.Gly138Glu) rs104893889
NM_004465.2(FGF10):c.577C>T (p.Arg193Ter) rs104893884
NM_004465.2(FGF10):c.624A>G (p.Ser208=) rs886060653

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